Aliases & Classifications for Pulmonary Emphysema

MalaCards integrated aliases for Pulmonary Emphysema:

Name: Pulmonary Emphysema 12 54 6 15 37 70

Classifications:



External Ids:

Disease Ontology 12 DOID:9675
ICD9CM 34 492.8
SNOMED-CT 67 195962007
ICD10 32 J43.8
UMLS 70 C0029607 C0034067

Summaries for Pulmonary Emphysema

Disease Ontology : 12 A chronic obstructive pulmonary disease that is characterized by permanent enlargement of air spaces distal to the terminal bronchioles and the destruction of the alveolar walls.

MalaCards based summary : Pulmonary Emphysema is related to pulmonary interstitial emphysema and alpha-1-antitrypsin deficiency, and has symptoms including hemoptysis, snoring and coughing. An important gene associated with Pulmonary Emphysema is SERPINA1 (Serpin Family A Member 1), and among its related pathways/superpathways are Innate Immune System and Cytokine Signaling in Immune system. The drugs Simvastatin and Sodium citrate have been mentioned in the context of this disorder. Affiliated tissues include lung, bone marrow and neutrophil, and related phenotypes are Decreased viability and Decreased viability

Related Diseases for Pulmonary Emphysema

Diseases in the Pulmonary Emphysema family:

Emphysema, Hereditary Pulmonary

Diseases related to Pulmonary Emphysema via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 316)
# Related Disease Score Top Affiliating Genes
1 pulmonary interstitial emphysema 31.6 SFTPD SFTPC
2 alpha-1-antitrypsin deficiency 31.3 SLPI SERPINB1 SERPINA3 SERPINA1 MMP12 MMP1
3 bronchitis 31.1 SLPI SERPINB1 SERPINA1 MMP9 MMP12 ELANE
4 cutis laxa 30.7 SERPINA1 MMP9 FBLN5 ELN ELANE
5 pulmonary hypertension 30.5 TIMP1 SFTPC HMOX1 ELANE CXCL8
6 proteasome-associated autoinflammatory syndrome 1 30.5 MMP9 ELANE CXCL8
7 fbln5-related cutis laxa 30.5 FBLN5 ELN
8 vasculitis 30.5 SERPINB1 SERPINA3 SERPINA1 ELANE
9 pneumothorax 30.4 TIMP2 TIMP1 SERPINA1 MMP9 MMP1 HMOX1
10 aneurysm 30.3 MMP12 FBLN5 ELN
11 arteriosclerosis 30.3 TIMP1 MMP9 HMOX1 ELN
12 bronchiectasis 30.3 SLPI SERPINA3 SERPINA1 MMP8 ELANE CXCL8
13 liver cirrhosis 30.3 TIMP2 TIMP1 SLPI SERPINA3 SERPINA1 CXCL8
14 cerebral aneurysms 30.2 HMOX1 ELN ELANE
15 silicosis 30.2 TIMP1 SFTPD HMOX1 CXCL8
16 supravalvular aortic stenosis 30.1 MMP9 FBLN5 ELN
17 status asthmaticus 30.1 MMP9 ELANE CXCL8
18 lymphangioleiomyomatosis 30.1 MMP9 MMP1 ELN
19 bronchopneumonia 30.1 SERPINA3 ELANE CXCL8
20 bronchopulmonary dysplasia 30.0 TIMP1 FGF7 ELANE CXCL8
21 bronchial disease 30.0 SERPINA3 ELANE CXCL8
22 conjunctivochalasis 29.8 TIMP2 TIMP1 MMP9 MMP1 CXCL8
23 chorioamnionitis 29.7 SLPI MMP9 MMP8 ELANE CXCL8
24 respiratory failure 29.6 TIMP1 SFTPD SFTPC SERPINA3 SERPINA1 MMP8
25 aspergillosis 29.6 SFTPD ELANE CXCL8
26 extrinsic allergic alveolitis 29.5 SFTPD ELANE CXCL8
27 periodontitis 29.5 TIMP1 SERPINA3 MMP9 MMP8 MMP1 ELANE
28 bone disease 29.4 SLPI MMP9 FGF23 CXCL8
29 pulmonary fibrosis 29.4 TIMP1 SFTPD SFTPC MMP9 MMP1 FGF7
30 osteoporosis 29.4 SLPI MMP9 MMP8 MMP1 FGF23 CXCL8
31 interstitial lung disease 29.4 TIMP1 SFTPD SFTPC MMP9 HMOX1 CXCL8
32 connective tissue disease 29.3 SFTPD SERPINA3 FBLN5 ELN CXCL8
33 idiopathic interstitial pneumonia 29.3 SFTPD SFTPC ELANE CXCL8
34 bronchiolitis obliterans 29.2 TIMP1 SLPI SFTPD MMP9 MMP8 CXCL8
35 bacterial pneumonia 29.1 SLPI SFTPD SERPINA3 ELN ELANE CXCL8
36 pulmonary disease, chronic obstructive 29.0 TIMP1 SLPI SFTPD SERPINB1 SERPINA3 SERPINA1
37 pneumonia 28.9 SLPI SFTPD SFTPC SERPINB1 SERPINA1 MMP12
38 asthma 28.9 TIMP1 SFTPD SERPINA3 SERPINA1 MMP9 MMP12
39 adult respiratory distress syndrome 28.9 SFTPD SFTPC FGF7 ELN ELANE CXCL8
40 lung disease 28.8 SLPI SFTPD SFTPC SERPINB1 SERPINA3 SERPINA1
41 cystic fibrosis 28.6 SLPI SFTPD SFTPC SERPINB1 SERPINA1 MMP9
42 pulmonary fibrosis, idiopathic 28.4 TIMP1 SFTPD SFTPC SERPINA1 MMP9 MMP8
43 autosomal recessive cutis laxa type i 11.5
44 berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification 11.4
45 meier-gorlin syndrome 1 11.2
46 compensatory emphysema 11.1
47 spastic entropion 10.4 MMP9 MMP1
48 autoimmune inner ear disease 10.4 TIMP1 MMP9
49 lentigo maligna melanoma 10.4 TIMP1 MMP9
50 senile ectropion 10.4 MMP9 ELN

Comorbidity relations with Pulmonary Emphysema via Phenotypic Disease Network (PDN):


Heart Disease

Graphical network of the top 20 diseases related to Pulmonary Emphysema:



Diseases related to Pulmonary Emphysema

Symptoms & Phenotypes for Pulmonary Emphysema

UMLS symptoms related to Pulmonary Emphysema:


hemoptysis; snoring; coughing

GenomeRNAi Phenotypes related to Pulmonary Emphysema according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00249-S 9.32 FGF7 MMP8 SERPINA3
2 Decreased viability GR00381-A-1 9.32 MMP8 SLPI
3 Decreased viability GR00386-A-1 9.32 ELN FGF7
4 Decreased viability GR00402-S-2 9.32 CXCL8 ELN FBLN5

MGI Mouse Phenotypes related to Pulmonary Emphysema:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.13 ELANE FBLN5 FGF23 FGF7 HMOX1 MMP1
2 immune system MP:0005387 10 ELANE FGF23 FGF7 HMOX1 MMP1 MMP12
3 neoplasm MP:0002006 9.5 ELANE FBLN5 MMP1 MMP8 MMP9 SFTPC
4 respiratory system MP:0005388 9.28 FBLN5 FGF23 HMOX1 MMP12 MMP9 SERPINB1

Drugs & Therapeutics for Pulmonary Emphysema

Drugs for Pulmonary Emphysema (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 108)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Simvastatin Approved Phase 4 79902-63-9 54454
2
Sodium citrate Approved, Investigational Phase 4 68-04-2
3
Angiotensin II Approved, Investigational Phase 4 68521-88-0, 11128-99-7, 4474-91-3 172198
4
Losartan Approved Phase 4 114798-26-4 3961
5
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
6 Anesthetics Phase 4
7
Salmeterol xinafoate Phase 4 94749-08-3 56801
8 Anticholesteremic Agents Phase 4
9 Antimetabolites Phase 4
10 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
11 Lipid Regulating Agents Phase 4
12 Hypolipidemic Agents Phase 4
13 Serine Proteinase Inhibitors Phase 4
14 Protein C Inhibitor Phase 4
15 Alpha 1-Antitrypsin Phase 4
16
protease inhibitors Phase 4
17 Trypsin Inhibitors Phase 4
18 HIV Protease Inhibitors Phase 4
19 Pharmaceutical Solutions Phase 4
20 Parasympatholytics Phase 4
21 Cholinergic Agents Phase 4
22 Bromides Phase 4
23 Tiotropium Bromide Phase 4 136310-93-5
24 Cholinergic Antagonists Phase 4
25 Vasodilator Agents Phase 4
26 Citrate Phase 4
27 Phosphodiesterase Inhibitors Phase 4
28 Phosphodiesterase 5 Inhibitors Phase 4
29 Sildenafil Citrate Phase 4 171599-83-0
30 Giapreza Phase 4
31 Angiotensin Receptor Antagonists Phase 4
32 Angiotensinogen Phase 4
33 Antihypertensive Agents Phase 4
34 Anti-Arrhythmia Agents Phase 4
35 Angiotensin II Type 1 Receptor Blockers Phase 4
36
Serine Investigational, Nutraceutical Phase 4 56-45-1 5951
37
Budesonide Approved Phase 3 51333-22-3 63006 5281004
38
Protein C Approved Phase 3
39
Ivermectin Approved, Investigational, Vet_approved Phase 3 70288-86-7 6474909
40 Hormone Antagonists Phase 3
41 glucocorticoids Phase 3
42 Hormones Phase 3
43 Abamectin Phase 3
44 Anthelmintics Phase 3
45
Tranexamic Acid Approved Phase 2 1197-18-8 5526
46
Isotretinoin Approved Phase 2 4759-48-2 5282379 5538
47
Hyaluronic acid Approved, Vet_approved Phase 2 9004-61-9 53477741
48
Aspirin Approved, Vet_approved Phase 2 50-78-2 2244
49
Ibuprofen Approved Phase 2 15687-27-1 3672
50
belimumab Approved Phase 2 356547-88-1 5957 10451420

Interventional clinical trials:

(show top 50) (show all 186)
# Name Status NCT ID Phase Drugs
1 Utility of the AeriSeal System in Patients With Advanced Upper Lobe Predominant Emphysema and Collateral Ventilation Assessed by the Chartis System Unknown status NCT01460108 Phase 4
2 Inspiratory Capacity and HRCT Comparison of Nebulized Arformoterol (Brovana) vs. Dry-powder Inhaler Salmeterol (Serevent) Unknown status NCT01361984 Phase 4 Nebulized arformoterol;Salmeterol
3 Doxycycline and Airway Inflammation in COPD: A Randomised Placebo Controlled Trial Studying the Effects of Doxycycline on Airway Inflammation in Patients With Moderate and Severe Stable COPD. Unknown status NCT00857038 Phase 4 Doxycycline;Placebo
4 The Effects of Simvastatin in Patients With Chronic Obstructive Pulmonary Disease Unknown status NCT00680641 Phase 4 Simvastatin;Placebo
5 A Multi-Center, Prospective, Clinical Trial Designed to Study the Efficacy of One-Way Valve Implantation Based on a New Treatment Algorithm in Patients With Heterogeneous Emphysema Unknown status NCT00730301 Phase 4
6 A Randomized, Placebo-Controlled, Double-Blind, Multicenter Phase III/IV Study to Compare the Efficacy and Safety of 60mg/kg Body Weight of Zemaira® Weekly I.V. Administration With Placebo Weekly I.V. Administration in Chronic Augmentation and Maintenance Therapy in Subjects With Emphysema Due to Alpha1-Proteinase Inhibitor Deficiency Completed NCT00261833 Phase 4
7 Pilot Study for Perfusion Heterogeneity: a Mechanistic Image-Based Emphysema Phenotype Completed NCT03733470 Phase 4 Sildenafil study group
8 A Two-Week, Randomized, Modified-Blind, Double-Dummy, Parallel-Group Efficacy and Safety Study of Arformoterol Tartrate Inhalation Solution Twice-Daily, Tiotropium Once-Daily, and Arformoterol Tartrate Inhalation Solution Twice-Daily and Tiotropium Once Daily in Subjects With Chronic Obstructive Pulmonary Disease Completed NCT00424528 Phase 4 Arformoterol Tartrate Inhalation Solution;Tiotropium;Arformoterol and Tiotropium;Placebo
9 Randomised Cross-over Study to Compare the Effect of Formoterol Plus Tiotropium Versus Formoterol Monotherapy on Breathlessness, Dynamic Hyperinflation and Exercise Tolerance in Moderate-to-severe Stable COPD Patients Completed NCT00680056 Phase 4 Formoterol plus Placebo (Tiotropium);Formoterol plus Tiotropium
10 An Open-label, Non-controlled, Multicenter, Multinational Study to Evaluate the Efficacy and Safety of Zemaira® Administration in Chronic Augmentation and Maintenance Therapy in Subjects With Emphysema Due to alpha1-proteinase Inhibitor Deficiency Who Completed Clinical Study CE1226_4001 Completed NCT00670007 Phase 4
11 Efficacy of Losartan in Preventing Progression of COPD Completed NCT00720226 Phase 4 Losartan;Placebo
12 Functional CT Assessment of Pulmonary Arterial Dysfunction in Smoking Associated Emphysema Recruiting NCT02682147 Phase 4 Hypoxia administration study group;Hyperoxia administration study group;Sildenafil
13 Smoking Cessation and Functional CT Assessment of Pulmonary Arterial Dysfunction in Smoking Associated Emphysema Recruiting NCT03382106 Phase 4 Sildenafil 20 MG;Placebo Oral Tablet
14 Losartan Effects on Emphysema Progression Active, not recruiting NCT02696564 Phase 4 Losartan;Placebo
15 Collateral Ventilation Effects on Response to AeriSeal System Treatment in Upper Lobe Predominant Emphysema Terminated NCT01520740 Phase 4
16 Perforomist Versus Foradil Evaluated by Inspiratory Capacity and HRCT Withdrawn NCT00633776 Phase 4 formoterol fumarate
17 Endoscopic Lung Volume Reduction by Implantation of Endobronchial Valves (EBV) vs. Intrabronchial Valves (IBV) in Patients With Severe Heterogeneous Emphysema Unknown status NCT01457833 Phase 2, Phase 3
18 Unilateral vs. Bilateral IBV Placement Unknown status NCT00995852 Phase 2, Phase 3
19 A Randomized, Double-blind Study to Evaluate the Safety and Effectiveness of the Exhale® Drug-Eluting Stent in Homogeneous Emphysema Subjects With Severe Hyperinflation Unknown status NCT00391612 Phase 3
20 Bronchoscopic Volume Reduction With Valve Implants After Analysis of Interlobar Fissure Integrity and Measurement of Collateral Ventilation in Patients With Severe, Heterogeneous Emphysema Unknown status NCT01902732 Phase 2, Phase 3
21 Cost-effectiveness of Lung Volume Reduction Coil Treatment in Emphysema. Unknown status NCT01822795 Phase 3
22 Sequential Endoscopic Lung Volume Reduction in Patients With Heterogeneous Lung Emphysema Unknown status NCT00613860 Phase 3
23 Effect of Symbicort on Sleep Quality in Patients With Emphysema Unknown status NCT01602523 Phase 3 Budesonide/formoterol;Placebo
24 Endoscopic Lung Volume Reduction in Patients With Advanced Emphysema Due to alpha1 Antitrypsin Deficiency Unknown status NCT01357460 Phase 2, Phase 3
25 Multi-center, Randomized, Double-blind, Crossover Trial to Evaluate the Pharmacokinetic Comparability of Alpha-1 MP to Prolastin in Subjects With Alpha1-antitrypsin Deficiency. Completed NCT00295061 Phase 3 Alpha-1 MP;alpha-1 proteinase inhibitor (human)
26 Multi-center, Open-label Trial to Evaluate the Safety and Tolerability of Alpha-1 MP in Subjects With Alpha-1-antitrypsin (AAT) Deficiency Completed NCT00301366 Phase 3 alpha-1 proteinase inhibitor (human)
27 A Study of the AeriSeal® System Administered at 3 to 4 Sites During a Single Treatment Session for Lung Volume Reduction in Patients With Advanced Emphysema Completed NCT01181466 Phase 2, Phase 3
28 The Effect and Mechanism of Bronchoscopic Lung Volume Reduction by Endobronchial Valve in Korean Emphysema Patients Completed NCT01869205 Phase 3
29 Multicenter, Double-Blind, Double-Dummy, Randomized, Active-Controlled, Parallel Group Long-Term Safety Study of 15 μg and 25 μg Arformoterol Tartrate Inhalation Solution BID in Subjects With Chronic Obstructive Pulmonary Disease Completed NCT00250679 Phase 3 Arformoterol tartrate inhalation solution;Arformoterol 25 ųg BID;Formoterol 12 ųg BID;Placebo
30 Clinical Evaluation of GW815SF for Chronic Obstructive Pulmonary Disease (Chronic Bronchitis, Emphysema)" A Long-term Treatment Study of GW815SF50/500µg in Chronic Obstructive Pulmonary Disease - Completed NCT00269087 Phase 3 fluticasone propionate/salmeterol combination DISKUS
31 A Prospective Feasibility Study to Evaluate the Safety and Performance of the Exhale(R) Drug-Eluting Stent System in Patients With Emphysema Completed NCT00207337 Phase 2, Phase 3
32 A Phase II/III, Double-Blind, Randomized, Placebo-Controlled, Multicenter, International Study Evaluating the Safety and Efficacy of Inhaled, Human, Alpha-1 Antitrypsin (AAT) in Alpha-1 Antitrypsin Deficient Patients With Emphysema Completed NCT01217671 Phase 2, Phase 3
33 Endobronchial Valve for Emphysema Palliation Trial (VENT) Completed NCT00129584 Phase 3
34 National Emphysema Treatment Trial (NETT) Completed NCT00000606 Phase 3
35 Comparative Study of Bronchoscopic Lung Volume Reduction to Evaluate Relative Efficacy in Patients With Non-Upper Lobe Emphysema Completed NCT00825578 Phase 3
36 Evaluation of Physiologic Parameters to Study the Mechanism of Action of the PneumRx, Inc. Lung Volume Reduction Coil (LVRC) in Subjects With Homogeneous Emphysema Completed NCT01421082 Phase 2, Phase 3
37 A Randomized, Double-Blind, Placebo Controlled Study to Assess the Efficacy and Safety of Two Dose Regimens (60 mg/kg and 120 mg/kg) of Weekly Intravenous Alpha1 Proteinase Inhibitor (Human) in Subjects With Pulmonary Emphysema Due to Alpha1 Antitrypsin Deficiency Recruiting NCT01983241 Phase 3
38 An Open-Label, Multicenter Study to Evaluate the Long-term Safety of Weekly Intravenous Alpha1-Proteinase Inhibitor (Human), Modified Process 60 mg/kg in Subjects With Pulmonary Emphysema Due to Alpha1-Antitrypsin Deficiency Enrolling by invitation NCT02796937 Phase 3
39 Bone Marrow-Derived Mesenchymal Stromal Cell Therapy Associated With Unidirectional Endobronchial Valve in Patients With Severe Pulmonary Emphysema: A Randomized Clinical Trial Not yet recruiting NCT04018729 Phase 2, Phase 3
40 Study of the AeriSeal System for HyPerInflation Reduction in Emphysema (ASPIRE) Terminated NCT01449292 Phase 3
41 A Continuation Study of the AeriSeal® System Administered at 3 to 4 Sites During a Single Treatment Session for Lung Volume Reduction in Patients With Advanced Emphysema Terminated NCT01320566 Phase 2, Phase 3
42 Endobronchial Valve for Emphysema PalliatioN Trial (VENT) Cost-effectiveness Sub-Study Terminated NCT00137956 Phase 3
43 The Effect of Nutritional Support on Gait Speed Following Hospitalisation for Acute Exacerbation of COPD Terminated NCT02261350 Phase 3
44 Study of the AeriSeal System Treatment in Patients With Advanced Non-Upper Lobe Predominant Heterogeneous Emphysema Withdrawn NCT01908933 Phase 3
45 Phase 3 Study of the Biologic Lung Volume Reduction (BLVR) System in Patients With Advanced Upper Lobe Predominant Emphysema Withdrawn NCT00716053 Phase 3 BLVR
46 Lung Volume Reduction in COPD Patients With an Inhomogeneous Severe Emphysema Located in the Upper Lobes, by Injecting Warm Saline Through the Bronchoscope Channel Unknown status NCT01920321 Phase 1, Phase 2
47 Beijing Municipal Science and Technology Commission Unknown status NCT02805699 Phase 2 Baofeikang Granule;Placebo
48 A Feasibility and Safety Study of Bronchoscopic Intrabullous Autologous Blood Instillation for the Treatment of Severe Bullous Emphysema (BIABI Study) Unknown status NCT01727037 Phase 2
49 Phase 2 Study of the Biologic Lung Volume Reduction System (BLVR) in Patients With Advanced Upper Lobe Predominant Emphysema Completed NCT00435253 Phase 2
50 Randomized Comparison of Thoracoscopic Lung Volume Reduction Surgery Performed by Resectional Surgical Technique Under General Anesthesia or by a Non-Resectional Technique in Awake Patients Under Sole Epidural Anesthesia Completed NCT00566839 Phase 2

Search NIH Clinical Center for Pulmonary Emphysema

Inferred drug relations via UMLS 70 / NDF-RT 51 :


Acetylcysteine
Aminophylline
aminophylline dihydrate
AMINOPHYLLINE PWDR
iodinated glycerol
Ipratropium
Ipratropium Bromide
oxtriphylline
Theophylline
Theophylline anhydrous
Theophylline calcium salicylate
Theophylline Sodium Glycinate

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Pulmonary Emphysema cell therapies at LifeMap Discovery.

Genetic Tests for Pulmonary Emphysema

Anatomical Context for Pulmonary Emphysema

MalaCards organs/tissues related to Pulmonary Emphysema:

40
Lung, Bone Marrow, Neutrophil, Bone, Endothelial, Skeletal Muscle, Placenta

Publications for Pulmonary Emphysema

Articles related to Pulmonary Emphysema:

(show top 50) (show all 3965)
# Title Authors PMID Year
1
Extensive Analysis of Elastase-Induced Pulmonary Emphysema in Rats: ALP in the Lung, a New Biomarker for Disease Progression? 61 54
20216950 2010
2
[Update: Alpha-1-antitrypsin deficiency. Summary of a scientific symposium at the conference of the Swiss Pneumologic Society on April 16th, 2009]. 61 54
19941265 2009
3
alpha1-Antitrypsin deficiency: best clinical practice. 54 61
19783716 2009
4
Selective MMP-12 inhibitors: WO-2008057254. 54 61
19456279 2009
5
Neutrophil elastase cleaves VEGF to generate a VEGF fragment with altered activity. 61 54
19136576 2009
6
A recombinant fragment of human surfactant protein D lacking the short collagen-like stalk fails to correct morphological alterations in lungs of SP-D deficient mice. 61 54
19177340 2009
7
Dysregulation of elastin expression by fibroblasts in pulmonary emphysema: role of cellular retinoic acid binding protein 2. 54 61
18621984 2008
8
alpha1-antitrypsin (A1AT) deficiency presenting with IgA nephropathy and nephrotic syndrome: is renal involvement caused by A1AT deposition? 54 61
18793532 2008
9
Alpha-1-antitrypsin deficiency (Siiyama) as indication for lung transplantation: proper timing for surgical intervention. 61 54
18577911 2008
10
Age of SERPINA1 gene PI Z mutation: Swedish and Latvian population analysis. 54 61
18294358 2008
11
[Polymorphism in promoter regions of matrix metalloproteinases (MMP1, MMP9, and MMP12) in chronic obstructive pulmonary disease patients]. 61 54
18619044 2008
12
Matrix metalloproteinase expression by human alveolar macrophages in relation to emphysema. 61 54
18259971 2008
13
Premature aging in klotho mutant mice: cause or consequence? 61 54
17353153 2007
14
Rapid and inexpensive detection of alpha1-antitrypsin deficiency-related alleles S and Z by a real-time polymerase chain reaction suitable for a large-scale population-based screening. 54 61
17251342 2007
15
Study of human lung elastin degradation by different elastases using high-performance liquid chromatography/mass spectrometry. 61 54
16962555 2006
16
alpha-1 antitrypsin inhibits caspase-3 activity, preventing lung endothelial cell apoptosis. 61 54
17003475 2006
17
Matrix metalloproteinase-9 promoter polymorphism associated with upper lung dominant emphysema. 61 54
16126934 2005
18
Autosomal dominant cutis laxa with severe lung disease: synthesis and matrix deposition of mutant tropoelastin. 61 54
15955094 2005
19
Prevalence of alpha1-antitrypsin phenotypes in patients with IgA nephropathy. 61 54
15630900 2004
20
Extracellular regulated kinase/mitogen activated protein kinase is up-regulated in pulmonary emphysema and mediates matrix metalloproteinase-1 induction by cigarette smoke. 61 54
14764579 2004
21
Retinoic acid fails to reverse emphysema in adult mouse models. 54 61
14985558 2004
22
Can exogenously administered hyaluronan improve respiratory function in patients with pulmonary emphysema? 54 61
14718453 2004
23
Imbalance of matrix metalloproteinase-9 and tissue inhibitor of matrix metalloproteinase-1 is associated with pulmonary emphysema in Klotho mice. 54 61
15864012 2004
24
A recombinant fragment of human surfactant protein D reduces alveolar macrophage apoptosis and pro-inflammatory cytokines in mice developing pulmonary emphysema. 54 61
15033705 2003
25
Microsatellite polymorphism in heme oxygenase-1 gene promoter is associated with susceptibility to oxidant-induced apoptosis in lymphoblastoid cell lines. 54 61
12730098 2003
26
Emphysema due to alpha-antitrypsin deficiency: familial study of the YBARCELONA variant. 54 61
12853554 2003
27
A novel oral neutrophil elastase inhibitor (ONO-6818) inhibits human neutrophil elastase-induced emphysema in rats. 54 61
12186827 2002
28
Influence of deficient alpha1-anti-trypsin phenotypes on clinical characteristics and severity of asthma in adults. 61 54
11905553 2002
29
Genetic polymorphisms of matrix metalloproteinases: functional importance in the development of chronic obstructive pulmonary disease? 54 61
12383023 2002
30
Genetic polymorphism in matrix metalloproteinase-9 and pulmonary emphysema. 61 54
11708786 2001
31
Matrix metalloproteinases and TIMPs: properties and implications for the treatment of chronic obstructive pulmonary disease. 61 54
11199097 2001
32
[The elastases]. 54 61
11723830 2001
33
Kinetics of equine neutrophil elastase release and superoxide anion generation following secretagogue activation: a potential mechanism for antiproteinase inactivation. 54 61
10628671 1999
34
A randomized clinical trial of alpha(1)-antitrypsin augmentation therapy. 61 54
10556107 1999
35
[Elastase anti-elastase imbalance in the pathogenesis of COPD]. 61 54
10497394 1999
36
Neutrophil granule proteins in bronchoalveolar lavage fluid from subjects with subclinical emphysema. 61 54
10351949 1999
37
A national program for detection of alpha 1-antitrypsin deficiency in Italy. Gruppo I.D.A. 54 61
10464873 1999
38
Inhibition of elastase-induced acute inflammation and pulmonary emphysema in hamsters by a novel neutrophil elastase inhibitor FR901277. 61 54
10219659 1999
39
Environmental correlates of impaired lung function in non-smokers with severe alpha 1-antitrypsin deficiency (PiZZ). 54 61
10193391 1998
40
Relations between cardiopulmonary exercise testing and quantitative high-resolution computed tomography associated in patients with alpha-1-antitrypsin deficiency. 61 54
9810033 1998
41
Matrix metalloproteinase-mediated extracellular matrix protein degradation in human pulmonary emphysema. 61 54
9759652 1998
42
Biochemical and pharmacological characterization of FR134043, a novel elastase inhibitor. 61 54
9592030 1998
43
Relationship of serum elastin peptide level to single breath transfer factor for carbon monoxide in French coal miners. 54 61
9516897 1997
44
Biochemical and pharmacological characterization of FK706, a novel elastase inhibitor. 61 54
9389382 1997
45
[Molecular characterization of two variants of alpha-1-antitrypsin deficiency: PI Mpalermo and PI Plovel]. 61 54
9441182 1997
46
The nitrite/elastin reaction: implications for in vivo degenerative effects. 61 54
9512892 1997
47
[Metalloproteinases in the extracellular matrix: structure and activity]. 61 54
9082500 1997
48
[Neutrophil elastase and elastin-derived peptides in BAL fluid and emphysematous changes on CT scans]. 61 54
9216188 1996
49
[Study of the frequency of different phenotypes of alpha-1-antitrypsin in a population of Barcelona]. 61 54
8755448 1996
50
[Structure and expression of the human neutrophil elastase gene--regulatory mechanism and its relevance to the respiratory diseases]. 61 54
8838087 1996

Variations for Pulmonary Emphysema

ClinVar genetic disease variations for Pulmonary Emphysema:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DHX34 NM_014681.6(DHX34):c.466C>T (p.Gln156Ter) SNV Likely pathogenic 691941 rs1599751192 GRCh37: 19:47856753-47856753
GRCh38: 19:47353496-47353496
2 LOX , SRFBP1 NM_002317.7(LOX):c.760G>A (p.Val254Ile) SNV Uncertain significance 599283 rs575190694 GRCh37: 5:121411217-121411217
GRCh38: 5:122075522-122075522

Expression for Pulmonary Emphysema

LifeMap Discovery
Genes differentially expressed in tissues of Pulmonary Emphysema patients vs. healthy controls: 35
# Gene Description Tissue Up/Dn Fold Change (log2) P value
1 S100A12 S100 calcium binding protein A12 Lung - 3.38 0.026
2 SERPIND1 serpin family D member 1 Lung + 3.23 0.020
3 HLA-DOA major histocompatibility complex, class II, DO alpha Lung + 3.20 0.002
Search GEO for disease gene expression data for Pulmonary Emphysema.

Pathways for Pulmonary Emphysema

Pathways related to Pulmonary Emphysema according to GeneCards Suite gene sharing:

(show all 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.87 TIMP2 TIMP1 SLPI SERPINB1 SERPINA3 SERPINA1
2
Show member pathways
13.22 TIMP1 MMP9 MMP1 HMOX1 FGF7 FGF23
3 12.71 MMP9 MMP1 HMOX1 FGF7 FGF23 CXCL8
4
Show member pathways
12.56 TIMP2 TIMP1 MMP9 MMP8 MMP12 MMP1
5
Show member pathways
12.14 TIMP2 TIMP1 FGF7 FGF23 CXCL8
6 11.86 TIMP1 MMP9 MMP1 HMOX1 CXCL8
7 11.73 TIMP2 TIMP1 MMP9 HMOX1
8 11.6 MMP9 MMP1 CXCL8
9
Show member pathways
11.52 MMP9 MMP1 CXCL8
10
Show member pathways
11.5 TIMP2 TIMP1 MMP9 MMP8 MMP12 MMP1
11 11.42 TIMP2 TIMP1 MMP9 MMP12 MMP1 CXCL8
12 11.31 TIMP2 MMP9 MMP1 ELN ELANE
13 11.2 MMP9 MMP1 HMOX1 CXCL8
14 11.07 TIMP2 TIMP1 MMP9
15 11.02 TIMP1 SFTPC SERPINA1 MMP9 HMOX1 FGF7
16 10.91 TIMP1 SERPINA3 MMP1
17 10.9 TIMP2 TIMP1 FGF7 FGF23 ELN CXCL8

GO Terms for Pulmonary Emphysema

Cellular components related to Pulmonary Emphysema according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.91 TIMP2 TIMP1 SLPI SFTPD SFTPC SERPINB1
2 extracellular matrix GO:0031012 9.86 TIMP2 TIMP1 MMP9 MMP8 MMP12 MMP1
3 collagen-containing extracellular matrix GO:0062023 9.85 TIMP2 SLPI SERPINB1 SERPINA3 SERPINA1 MMP9
4 specific granule lumen GO:0035580 9.62 TIMP2 SLPI MMP8 ELANE
5 platelet alpha granule lumen GO:0031093 9.61 TIMP1 SERPINA3 SERPINA1
6 tertiary granule lumen GO:1904724 9.58 TIMP2 MMP9 MMP8
7 extracellular space GO:0005615 9.55 TIMP2 TIMP1 SLPI SFTPD SFTPC SERPINB1
8 elastic fiber GO:0071953 9.37 FBLN5 ELN

Biological processes related to Pulmonary Emphysema according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.93 MMP8 MMP12 FGF7 FGF23 CXCL8
2 cytokine-mediated signaling pathway GO:0019221 9.88 TIMP1 MMP9 MMP1 HMOX1 CXCL8
3 extracellular matrix organization GO:0030198 9.85 MMP9 MMP8 MMP12 MMP1 FBLN5 ELN
4 cellular protein metabolic process GO:0044267 9.8 TIMP1 SFTPD SFTPC SERPINA1 MMP1 FGF23
5 neutrophil degranulation GO:0043312 9.76 TIMP2 SLPI SERPINB1 SERPINA3 SERPINA1 MMP9
6 negative regulation of endopeptidase activity GO:0010951 9.73 TIMP2 TIMP1 SLPI SERPINB1 SERPINA3 SERPINA1
7 collagen catabolic process GO:0030574 9.71 MMP9 MMP8 MMP12 MMP1
8 respiratory gaseous exchange GO:0007585 9.63 SFTPD SFTPC ELN
9 cellular response to UV-A GO:0071492 9.61 TIMP1 MMP9 MMP1
10 response to amyloid-beta GO:1904645 9.56 MMP9 MMP12
11 positive regulation of keratinocyte migration GO:0051549 9.55 MMP9 FGF7
12 regulation of neuroinflammatory response GO:0150077 9.52 MMP9 MMP8
13 negative regulation of metallopeptidase activity GO:1905049 9.51 TIMP2 TIMP1
14 negative regulation of membrane protein ectodomain proteolysis GO:0051045 9.49 TIMP2 TIMP1
15 negative regulation of peptidase activity GO:0010466 9.43 TIMP2 TIMP1 SLPI SERPINB1 SERPINA3 SERPINA1
16 extracellular matrix disassembly GO:0022617 9.17 TIMP2 TIMP1 MMP9 MMP8 MMP12 MMP1

Molecular functions related to Pulmonary Emphysema according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 zinc ion binding GO:0008270 9.93 TIMP2 TIMP1 MMP9 MMP8 MMP12 MMP1
2 peptidase activity GO:0008233 9.88 MMP9 MMP8 MMP12 MMP1 ELANE
3 serine-type endopeptidase activity GO:0004252 9.71 MMP9 MMP8 MMP1 ELANE
4 metallopeptidase activity GO:0008237 9.67 MMP9 MMP8 MMP12 MMP1
5 metalloendopeptidase activity GO:0004222 9.62 MMP9 MMP8 MMP12 MMP1
6 protease binding GO:0002020 9.56 TIMP2 TIMP1 SERPINA1 ELANE
7 serine-type endopeptidase inhibitor activity GO:0004867 9.46 SLPI SERPINB1 SERPINA3 SERPINA1
8 extracellular matrix constituent conferring elasticity GO:0030023 9.43 FBLN5 ELN
9 endopeptidase activity GO:0004175 9.35 MMP9 MMP8 MMP12 MMP1 ELANE
10 peptidase inhibitor activity GO:0030414 9.1 TIMP2 TIMP1 SLPI SERPINB1 SERPINA3 SERPINA1

Sources for Pulmonary Emphysema

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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